Version 2.78

Term Description

The UGT1A1 gene product metabolic activity interpretation is determined by the reporting lab and returned with the structured test results. The Preferred Answer list associated with this term is based on the Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for reporting UGT1A1 gene product metabolic activity (phenotype), which apply to both genetic and enzymatic assays (this LOINC term represents a genetic assay). This specific interpretation would be considered a separate observation made by the lab in addition to the primary reported results (e.g., genotype or measured activity level) and it could be included with other assay-specific observations, which would ideally support the interpretation value. [https://cpicpgx.org/resources.html]
Source: Regenstrief LOINC

Part Description

LP202926-4   UGT1A1 gene product metabolic activity interpretation
UDP-glucuronosyltransferase 1-1 also known as UGT-1A is an enzyme that in humans is encoded by the UGT1A1 [HGNC Gene ID: 12530] gene. UDP-glucuronosyltransferase enzymes are part of the glucuronidation pathway that transforms small lipophilic molecules, such as irinotecan, into water-soluble, excretable metabolites. Reduced hepatic UGT1A1 activity to approximately 30% of normal is a hallmark of Gilbert syndrome, a benign condition characterized by mild unconjugated hyperbilirubinemia. Individuals with Gilbert syndrome may experience transient elevations in unconjugated plasma bilirubin in response to various triggers (e.g., fasting, infection, or medications). Genotypes most commonly implicated in Gilbert syndrome are UGT1A1*28/*28 and UGT1A1*6/*6. Genetic variations in UGT1A1 can also affect the response (i.e., efficacy or toxicity) to drugs metabolized by UGT1A1 (e.g., irintotecan) or that inhibit UGT1A1 function (e.g., atazanavir). Selection of alternative dosing or agents may be necessary in individuals with certain UGT1A1 genetic variations. PMID: 26417955 See https://www.pharmgkb.org/gene/PA420 for more information and dosing guidelines for drugs impacted by UGT1A1 genetic variation. Source: Clinical Pharmacogenetics Implementation Consortium

Fully-Specified Name

Component
UGT1A1 gene product metabolic activity interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
UGT1A1 gene prod met act imp Bld/T-Imp
Display Name
UGT1A1 gene product metabolic activity interpretation Molgen Ql (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
UGT1A1 gene product metabolic activity interpretation, Blood or tissue specimen

Preferred Answer List: LL3856-3

Source: Clinical Pharmacogenetics Implementation Consortium
Answer Code Score Answer ID
Ultrarapid metabolizer LA10315-2
Rapid metabolizer LA25390-8
Normal metabolizer LA25391-6
Intermediate metabolizer LA10317-8
Poor metabolizer LA9657-3

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.67
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen UGT1A1 interpretation de la actividad en el metabolismo de fármacos:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Interpretación de la actividad metabólica del producto del gen UGT1A1:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) UGT1A1 gène activité métabolique interprétation:Interprétation:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) Interpretazione dell'attività metabolica del gene UGT1A1:Imp:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Farmacogenomica Gene UGT1A1 Genetica molecolare Impressione/interpretazione di studio Interpretazione dell''attività metabolica del gene Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) UGT1A1-gen product metabole activiteit interpretatie:interpretatie:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen UGT1A1 gen UGT1A1 gen product metabole activiteit interpretatie
tr-TR Turkish (Turkey) UGT1A1 geni ürünü metabolik aktivite yorumu:İzlnm:Zmlı:Kan/Dk:Srl:Molgen
zh-CN Chinese (China) UGT1A1 基因产物新陈代谢活性解释:印象:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: Crigler-Najjar 综合征, I 型;Gilbert 综合征;Gilbert 综合征（一种遗传性结合型胆红素水平升高造成胆红素排泄障碍,而肝脏功能正常的综合征,是人类最为常见的综合征类型之一）;GNT1;UDP 糖基转移酶 1 家族, 多肽 A1 基因;UDP 转糖基酶 1 家族, 多肽 A1 基因;UGT1;UGT1A;UGT1A5;二磷酸尿苷糖基转移酶 1 家族, 多肽 A1 基因;二磷酸尿苷转糖基酶 1 家族, 多肽 A1 基因;尿苷二磷酸糖基转移酶 1 家族, 多肽 A1 基因;尿苷二磷 UGT1A1 基因产物新陈代谢（代谢）活性解释（说明、阐释、诠释、解释说明） 代谢作用;新陈代谢 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 判读;解释说明;说明;释义;阐明 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 基因产物新陈代谢（代谢）活性解释（说明、阐释、诠释、解释说明） 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 活动 血;血液 遗传基因;遗传因子;吉恩;生物基因

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CodeSystem lookup
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